Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155952 | SCV000205664 | uncertain significance | not specified | 2013-08-15 | criteria provided, single submitter | clinical testing | The Arg702Trp variant in CDH23 has not been reported in individuals with hearing loss or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Arg702Trp variant may impact the protein, though this information is not predict ive enough to determine pathogenicity. In summary, additional information is nee ded to fully assess the clinical significance of the Arg702Trp variant. |
Gene |
RCV001731486 | SCV001982132 | uncertain significance | not provided | 2021-10-04 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001731486 | SCV003513526 | uncertain significance | not provided | 2021-10-22 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with tryptophan at codon 702 of the CDH23 protein (p.Arg702Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs528779319, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 179166). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C65"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Natera, |
RCV001275934 | SCV001461614 | uncertain significance | Usher syndrome type 1 | 2020-04-15 | no assertion criteria provided | clinical testing |